Allele Registry

Canonical Allele Identifier: PA2827018618

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042506

RCV002513616

ClinVar Variation:

49247

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Thr1038Arg	CA018689 NM_001318832.2:c.3113C>G